SLC17A4: Solute Carrier Family 17 Member 4
A urate transporter with implications in gout and renal function
Gene Information Card
| Symbol | SLC17A4 |
|---|---|
| Full Name | Solute carrier family 17 member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 100506742 ncbi.nlm.nih.gov/gene/100506742 |
| Ensembl ID | ENSG00000146039 |
| UniProt ID | Q9NQH3 |
| OMIM ID | 611460 |
| HGNC ID | 10952 |
| Aliases | KIAA2138, MGC129606, MGC129607 |
Description
SLC17A4 encodes a member of the solute carrier family 17, functioning as a sodium-dependent urate transporter. It is expressed in the kidney and intestine, playing a key role in urate homeostasis. Genetic variants in SLC17A4 have been associated with serum urate levels and gout risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gout | Altered urate transport due to SLC17A4 variants may increase serum urate levels, predisposing to gout. | GWAS studies (e.g., Köttgen et al. 2013) have identified SLC17A4 as a locus for serum urate. |
| Hyperuricemia | Reduced function of SLC17A4 may impair renal urate excretion, leading to elevated uric acid. | Association confirmed in large-scale meta-analyses (PMID: 23263486). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Small Intestine | 8.3 | Medium |
| Liver | 3.1 | Low |
| Colon | 2.7 | Low |
| Pancreas | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected models |
| Caco-2 | 9.8 | Intestinal epithelial cell line |
| HK-2 | 11.4 | Proximal tubule cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1165205 (intronic variant) | SNV | 0.35 (East Asian) | Associated with urate levels |
| rs11722228 (intronic variant) | SNV | 0.28 (European) | Associated with gout risk |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some intronic variants may reduce expression or transport activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • organic anion transmembrane transporter activity (GO:0008514) | • urate transmembrane transporter activity (GO:0015143) |
| • transmembrane transport (GO:0055085) | • apical plasma membrane (GO:0016324) |
Pathways
• Urate transport in renal tubules
• Purine metabolism
Protein Summary
SLC17A4 is a 512-amino acid multi-pass membrane protein localized to the apical membrane of renal proximal tubule cells and intestinal enterocytes. It mediates electrogenic sodium-dependent urate uptake, contributing to urate reabsorption. Structural studies suggest it belongs to the major facilitator superfamily.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC17A4 Knockout HEK293 Cell Line | EDJ-KQ6878 | Human | 10050 | Details Get a Quote |
| SLC17A4 Knockout HeLa Cell Line | EDJ-KQ55307 | Human | 10050 | Details Get a Quote |
| SLC17A4 Knockout A-549 Cell Line | EDJ-KQ63790 | Human | 10050 | Details Get a Quote |
| SLC17A4 Knockout HCT 116 Cell Line | EDJ-KQ72247 | Human | 10050 | Details Get a Quote |
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